Browsing by Keywords "Consanguinity"
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Genomic landscape of the Greater Middle East
(Nature Publishing Group, 2016-09)Study of the Greater Middle East (GME), home to approximately 10% of the world's population, has made invaluable contributions to the characterization of rare genetic disease, especially recessive conditions arising from ... -
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
(Springer, 2010)Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes ...